CENPE

centromere protein E
OMIM: 117143, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red CENPE in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.82
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
  • Other
Phenotypes
  • ?Microcephaly 13, primary, autosomal recessive, OMIM:616051
  • Microcephalic primordial dwarfism